Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Sanne M Petersen; Mette Dandanell; Lene J Rasmussen; Anne-Marie Axø Gerdes; Lotte Nylandsted Krogh; Inge Bernstein; Henrik Okkels; Friedrik Wikman; Finn C Nielsen; Thomas V O Hansen

doi:10.1186/1471-2350-14-103

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Sanne M Petersen, Mette Dandanell, Lene J Rasmussen, Anne-Marie Axø Gerdes, Lotte Nylandsted Krogh, Inge Bernstein, Henrik Okkels, Friedrik Wikman, Finn C Nielsen, Thomas V O Hansen

Research output: Contribution to journal › Journal article › Research › peer-review

19 Citations (Scopus)

Abstract

Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomic rearrangements. However, a large number of mutations, including missense, silent, and intronic variants, are classified as variants of unknown clinical significance.

Original language	English
Journal	B M C Medical Genetics
Volume	14
Pages (from-to)	103
Number of pages	7
ISSN	1471-2350
DOIs	https://doi.org/10.1186/1471-2350-14-103
Publication status	Published - 2013

Keywords

Adaptor Proteins, Signal Transducing
Colorectal Neoplasms
DNA-Binding Proteins
Denmark
European Continental Ancestry Group
Genetic Counseling
Humans
Introns
MutS Homolog 2 Protein
Mutation
Nuclear Proteins
RNA Splice Sites

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title = "Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients",

abstract = "Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomic rearrangements. However, a large number of mutations, including missense, silent, and intronic variants, are classified as variants of unknown clinical significance.",

keywords = "Adaptor Proteins, Signal Transducing, Colorectal Neoplasms, DNA-Binding Proteins, Denmark, European Continental Ancestry Group, Genetic Counseling, Humans, Introns, MutS Homolog 2 Protein, Mutation, Nuclear Proteins, RNA Splice Sites",

author = "Petersen, {Sanne M} and Mette Dandanell and Rasmussen, {Lene J} and Gerdes, {Anne-Marie Ax{\o}} and Krogh, {Lotte Nylandsted} and Inge Bernstein and Henrik Okkels and Friedrik Wikman and Nielsen, {Finn C} and Hansen, {Thomas V O}",

year = "2013",

doi = "10.1186/1471-2350-14-103",

language = "English",

volume = "14",

pages = "103",

journal = "B M C Medical Genetics",

issn = "1471-2350",

publisher = "BioMed Central",

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TY - JOUR

T1 - Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

AU - Petersen, Sanne M

AU - Dandanell, Mette

AU - Rasmussen, Lene J

AU - Gerdes, Anne-Marie Axø

AU - Krogh, Lotte Nylandsted

AU - Bernstein, Inge

AU - Okkels, Henrik

AU - Wikman, Friedrik

AU - Nielsen, Finn C

AU - Hansen, Thomas V O

PY - 2013

Y1 - 2013

N2 - Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomic rearrangements. However, a large number of mutations, including missense, silent, and intronic variants, are classified as variants of unknown clinical significance.

AB - Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomic rearrangements. However, a large number of mutations, including missense, silent, and intronic variants, are classified as variants of unknown clinical significance.

KW - Adaptor Proteins, Signal Transducing

KW - Colorectal Neoplasms

KW - DNA-Binding Proteins

KW - Denmark

KW - European Continental Ancestry Group

KW - Genetic Counseling

KW - Humans

KW - Introns

KW - MutS Homolog 2 Protein

KW - Mutation

KW - Nuclear Proteins

KW - RNA Splice Sites

U2 - 10.1186/1471-2350-14-103

DO - 10.1186/1471-2350-14-103

M3 - Journal article

C2 - 24090359

SN - 1471-2350

VL - 14

SP - 103

JO - B M C Medical Genetics

JF - B M C Medical Genetics

ER -

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Abstract

Keywords

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